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Muscular Dystrophy

By Semko, Laura

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December 16, 2017

Muscular Dystrophy

Muscular dystrophy (MD) is a disorder that slowly weakens muscles. Over time, a child’s muscles break down. They are replaced with fatty tissue. MD can make movements like walking and standing up hard to do. It may even cause deformities in the joints.

MD is a genetic disorder. That means it is inherited. Children with a family history of the condition are more likely to have it.

MD is divided into 9 types. Some types don’t develop until a child becomes an adult. Others cause symptoms early in life. Children are usually diagnosed with the disorder between 3 and 6 years old. The most common types to affect children are called Duchenne muscular dystrophy and Becker muscular dystrophy.

Symptoms of muscular dystrophy

Children with MD often have movement problems when they are young. They may start to walk later than normal. They may have trouble getting up from a sitting or lying position. Weakness in the shoulders and pelvic muscles is an early symptom.

Children may also have these other common symptoms of the disorder:

Clumsiness

Problems climbing stairs

Trouble jumping or hopping

Frequent tripping or falling

Walking on their toes

Leg pain

Weakness in the face, shoulder, and arms

Inability to open or close the eyes

Large calves from fat buildup

As MD progresses, a child may have heart or lung problems. He or she may also have scoliosis. Scoliosis is a condition that causes the spine to curve. A child with scoliosis may look like he or she is leaning to one side.

Diagnosing muscular dystrophy

MD may look like other health problems. To diagnose it, your child’s doctor first does a physical exam. He or she may also ask about your child’s medical history. A genetic blood test may help diagnose the disorder along with other blood tests.

Other tests that may confirm MD include:

Muscle biopsy. A sample of muscle is looked at under a microscope.

Electromyogram. This test can find out if there is breakdown of muscle tissue.

Electrocardiogram (ECG or EKG). This test can spot heart problems, such as an irregular heartbeat or damage to the heart muscle.

Treating muscular dystrophy

MD is a life-long condition. There is no cure. But managing it can prevent problems and deformities. The exact treatment depends on many things. They include the child’s age, overall health, and the type of MD.

A child with MD will eventually need a wheelchair because of weak leg muscles. Keeping the child as independent as possible is the main focus of treatment. Options include:

Physical therapy

Medicines including deflazacort

Psychological and nutritional counseling

Braces and splints may support and protect muscles. Special devices can help a child sit, stand, or lie down. Surgery may also be needed to fix scoliosis or other related problems.

Updated: &nbsp

December 16, 2017

Sources: &nbsp

Clinical features and diagnosis of Duchenne and Becker muscular dystrophy, Up To Date, Original article: 90-p02771, Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology. 2014;43(3-4):259-68.